Prenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists

Barbara Scelsa; Dawn Gano; Anthony R Hart; Brigitte Vollmer; Monica E Lemmon; Tomo Tarui; Sarah B Mulkey; Mark Scher; Andrea C Pardo; Sonika Agarwal; Charu Venkatesan

doi:10.1016/j.pediatrneurol.2024.10.014

Prenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists

Pediatr Neurol. 2024 Oct 26:162:87-96. doi: 10.1016/j.pediatrneurol.2024.10.014. Online ahead of print.

Authors

Barbara Scelsa¹, Dawn Gano², Anthony R Hart³, Brigitte Vollmer⁴, Monica E Lemmon⁵, Tomo Tarui⁶, Sarah B Mulkey⁷, Mark Scher⁸, Andrea C Pardo⁹, Sonika Agarwal¹⁰, Charu Venkatesan¹¹

Affiliations

¹ Department of Pediatric Neurology, Buzzi Children's Hospital, University of Milan, Milan, Italy. Electronic address: barbara.scelsa@asst-fbf-sacco.it.
² Department of Neurology & Pediatrics, University of California San Francisco, San Francisco, California.
³ Department of Paediatric Neurology, King's College Hospital NHS Foundation Trust, London, UK.
⁴ Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Neonatal and Paediatric Neurology, Southampton Children's Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
⁵ Department of Pediatrics and Population Health Sciences, Duke University School of Medicine, Durham, North Carolina.
⁶ Division of Pediatric Neurology, Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island.
⁷ Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington, District of Columbia; Department of Neurology, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia; Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.
⁸ Emeritus Full Professor Pediatrics and Neurology, Case Western Reserve University School of Medicine.
⁹ Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago Illinois.
¹⁰ Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
¹¹ Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.

PMID: 39577233
DOI: 10.1016/j.pediatrneurol.2024.10.014

Abstract

Holoprosencephaly (HPE) is one of the most common malformations in embryonic development. HPE represents a continuum spectrum that involves the midline cleavage of forebrain structures. Facial malformations of varying degrees of severity are also observed. It is probable that HPE results from a combination of genetic mutations and environmental influences during the initial weeks of pregnancy. Some patients with HPE experience early death, whereas others go on to experience neurodevelopmental impairment. Accurate fetal imaging can facilitate diagnosis and prenatal counseling, although more subtle brain abnormalities can be difficult to diagnose prenatally. Fetal counseling can be complex, given that the etiopathogenesis remains unclear and variable penetrance is prevalent in inherited genetic mutations. The aim of this narrative review is to examine the literature on HPE and to offer recommendations for pediatric neurologists for fetal counseling and postnatal care.

Keywords: Fetal MRI; Fetal brain; Fetal counseling; Fetal neurology; Fetus; Holoprosencephaly; Neurodevelopment.

Publication types

Review